regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEL_chr9_133056981_133076861 | 133071373 | CCCCCGTG others(256): Show |
C | frameshift_variant | HIGH | HG03195.hp1 | a0034 | a0034c0053 | a0034c0053t0001 | a0034c0053t0001g0017 | 1 | 416 | 0.0024 | -263 | c.187 others(9): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001a0005a0006others(2): Show | a0001c0019a0001c0054a0001c0056others(24): Show | a0001c0019t0001a0001c0054t0001a0001c0056t0001others(24): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0054t0001g0056others(25): Show | 28 | 416 | 0.0673 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00544.hp2 HG00558.hp1 HG01109.hp2 others(12): Show |
a0001a0006a0057others(1): Show | a0001c0069a0001c0071a0006c0028others(10): Show | a0001c0069t0001a0001c0071t0001a0006c0028t0001others(10): Show | a0001c0069t0001g0001a0001c0071t0001g0003a0006c0028t0001g0001others(11): Show | 15 | 416 | 0.0361 | -32 | c.190 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02293.hp1 NA18987.hp1 NA19003.hp2 others(1): Show |
a0006 | a0006c0026a0006c0126a0006c0218 | a0006c0026t0001a0006c0126t0001a0006c0218t0001 | a0006c0026t0001g0004a0006c0026t0001g0038a0006c0126t0001g0003others(1): Show | 4 | 416 | 0.0096 | -98 | c.190 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071432 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG00280.hp1 HG00642.hp1 HG01175.hp2 others(2): Show |
a0001a0007a0010 | a0001c0191a0007c0114a0010c0040others(1): Show | a0001c0191t0001a0007c0114t0001a0010c0040t0001others(1): Show | a0001c0191t0001g0026a0007c0114t0001g0008a0010c0040t0001g0002others(1): Show | 5 | 416 | 0.0120 | -98 | c.194 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071433 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001a0006a0007others(1): Show | a0001c0073a0001c0192a0001c0194others(15): Show | a0001c0073t0001a0001c0192t0001a0001c0194t0001others(15): Show | a0001c0073t0001g0001a0001c0192t0001g0002a0001c0194t0001g0002others(15): Show | 18 | 416 | 0.0433 | 1 | c.193 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001a0005a0006others(5): Show | a0001c0019a0001c0055a0001c0063others(19): Show | a0001c0019t0001a0001c0055t0001a0001c0063t0001others(19): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(20): Show | 23 | 416 | 0.0553 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0004 | a0004c0149 | a0004c0149t0001 | a0004c0149t0001g0012 | 1 | 416 | 0.0024 | 34 | c.195 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1982/2381 | 1960/2262 | 654/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(60): Show |
frameshift_variant others(1): Show |
HIGH | HG01167.hp1 HG02622.hp2 |
a0002a0007 | a0002c0162a0007c0122 | a0002c0162t0001a0007c0122t0001 | a0002c0162t0001g0012a0007c0122t0001g0012 | 2 | 416 | 0.0048 | 67 | c.196 others(76): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(20353): Show |
frameshift_variant others(1): Show |
HIGH | HG04204.hp2 | a0031 | a0031c0048 | a0031c0048t0001 | a0031c0048t0001g0064 | 1 | 416 | 0.0024 | 20360 | c.196 others(20369): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | GCCCCCCC others(27): Show |
G | frameshift_variant | HIGH | HG01123.hp1 | a0039 | a0039c0176 | a0039c0176t0001 | a0039c0176t0001g0001 | 1 | 416 | 0.0024 | -34 | c.194 others(43): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1963/2381 | 1941/2262 | 647/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show |
a0001a0010a0014 | a0001c0074a0001c0075a0010c0031others(4): Show | a0001c0074t0001a0001c0075t0001a0010c0031t0001others(4): Show | a0001c0074t0001g0001a0001c0075t0001g0009a0010c0031t0001g0001others(4): Show | 8 | 416 | 0.0192 | -32 | c.194 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | NA18906.hp2 NA18954.hp1 |
a0001a0065 | a0001c0197a0065c0047 | a0001c0197t0001a0065c0047t0001 | a0001c0197t0001g0002a0065c0047t0001g0036 | 2 | 416 | 0.0048 | -65 | c.194 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(90): Show |
C | frameshift_variant | HIGH | HG00733.hp2 HG01517.hp2 |
a0026 | a0026c0039 | a0026c0039t0001 | a0026c0039t0001g0002 | 2 | 416 | 0.0048 | -97 | c.194 others(106): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(157): Show |
C | frameshift_variant | HIGH | HG02896.hp1 | a0066 | a0066c0046 | a0066c0046t0001 | a0066c0046t0001g0022 | 1 | 416 | 0.0024 | -164 | c.194 others(9): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071465 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG01433.hp2 HG01934.hp2 |
a0004a0050 | a0004c0233a0050c0208 | a0004c0233t0001a0050c0208t0001 | a0004c0233t0001g0002a0050c0208t0001g0002 | 2 | 416 | 0.0048 | -98 | c.196 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0004a0005others(3): Show | a0001c0073a0001c0190a0001c0192others(26): Show | a0001c0073t0001a0001c0190t0001a0001c0192t0001others(26): Show | a0001c0073t0001g0001a0001c0190t0001g0005a0001c0192t0001g0002others(31): Show | 38 | 416 | 0.0914 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0004a0005others(6): Show | a0001c0055a0001c0062a0001c0063others(19): Show | a0001c0055t0001a0001c0062t0001a0001c0063t0001others(19): Show | a0001c0055t0001g0001a0001c0062t0001g0007a0001c0063t0001g0003others(19): Show | 23 | 416 | 0.0553 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0013a0068 | a0001c0076a0013c0013a0013c0033others(4): Show | a0001c0076t0002a0013c0013t0001a0013c0033t0001others(4): Show | a0001c0076t0002g0071a0013c0013t0001g0001a0013c0013t0001g0055others(8): Show | 11 | 416 | 0.0264 | -32 | c.197 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02055.hp1 | a0006 | a0006c0142 | a0006c0142t0001 | a0006c0142t0001g0051 | 1 | 416 | 0.0024 | -98 | c.197 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071500 | CGCCCCCC others(25): Show |
C | frameshift_variant | HIGH | NA19063.hp2 NA19065.hp1 |
a0007a0013 | a0007c0117a0013c0152 | a0007c0117t0001a0013c0152t0001 | a0007c0117t0001g0001a0013c0152t0001g0001 | 2 | 416 | 0.0048 | -32 | c.200 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0004a0005others(10): Show | a0001c0054a0001c0060a0001c0061others(48): Show | a0001c0054t0001a0001c0060t0001a0001c0061t0001others(48): Show | a0001c0054t0001g0056a0001c0060t0001g0001a0001c0061t0001g0006others(48): Show | 52 | 416 | 0.1250 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071505 | CCCCCGTG others(124): Show |
C | frameshift_variant | HIGH | HG01496.hp2 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0001 | 1 | 416 | 0.0024 | -131 | c.200 others(9): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0004a0006others(4): Show | a0001c0192a0001c0194a0001c0195others(22): Show | a0001c0192t0001a0001c0194t0001a0001c0195t0001others(22): Show | a0001c0192t0001g0002a0001c0194t0001g0002a0001c0195t0001g0084others(28): Show | 42 | 416 | 0.1010 | -32 | c.204 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071564 | GGCGCCCC others(25): Show |
G | frameshift_variant | HIGH | HG01192.hp1 | a0001 | a0001c0190 | a0001c0190t0001 | a0001c0190t0001g0005 | 1 | 416 | 0.0024 | -32 | c.206 others(41): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2086/2381 | 2064/2262 | 688/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA18947.hp1 | a0014 | a0014c0129 | a0014c0129t0001 | a0014c0129t0001g0004 | 1 | 416 | 0.0024 | 34 | c.209 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2114/2381 | 2092/2262 | 698/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001a0002a0004others(11): Show | a0001c0019a0001c0055a0001c0058others(42): Show | a0001c0019t0001a0001c0055t0001a0001c0058t0001others(42): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(44): Show | 47 | 416 | 0.1130 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071604 | CCCCCGTG others(25): Show |
C | frameshift_variant | HIGH | NA18954.hp1 | a0001 | a0001c0197 | a0001c0197t0001 | a0001c0197t0001g0002 | 1 | 416 | 0.0024 | -32 | c.210 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CENPI_chrX_101093204_101171126 | 101145096 | T | TG | frameshift_variant | HIGH | NA18977.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0113 | 1 | 282 | 0.0036 | 1 | c.159 others(5): Show |
p.Ser others(5): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 17/22 | 1754/5584 | 1600/2271 | 534/756 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CENPI_chrX_101093204_101171126 | 101148072 | G | GA | frameshift_variant | HIGH | NA18940.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0065 | 1 | 282 | 0.0036 | 1 | c.201 others(5): Show |
p.Thr others(5): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 20/22 | 2166/5584 | 2012/2271 | 671/756 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CENPM_chr22_41933737_41952152 | 41939159 | ACCAGGCG others(37): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0139 | 1 | 258 | 0.0039 | -44 | c.403 others(53): Show |
p.Val others(5): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 6/6 | 515/938 | 403/543 | 135/180 | chr22 | TogoVar | ||
CENPVL1_chrX_51705512_51717131 | 51711245 | G | GGA | frameshift_variant | HIGH | NA19062.hp1 | a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0000 | 1 | 238 | 0.0042 | 2 | c.735 others(9): Show |
p.Glu others(5): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 1/1 | 736/1620 | 736/819 | 246/272 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CENPVL1_chrX_51705512_51717131 | 51711309 | T | TC | frameshift_variant | HIGH | NA18951.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0000 | 1 | 238 | 0.0042 | 1 | c.802 others(4): Show |
p.Arg others(5): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 1/1 | 803/1620 | 803/819 | 268/272 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CENPVL2_chrX_51676212_51687831 | 51682029 | C | CG | frameshift_variant | HIGH | HG03831.hp2 NA18991.hp1 |
a0000a0004 | a0000c0007a0004c0005 | a0000c0007t0001a0004c0005t0001 | a0000c0007t0001g0000a0004c0005t0001g0000 | 2 | 237 | 0.0084 | 1 | c.802 others(4): Show |
p.Arg others(5): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 1/1 | 802/1620 | 802/819 | 268/272 | chrX | TogoVar | ||
CENPVL2_chrX_51676212_51687831 | 51682182 | C | CG | frameshift_variant | HIGH | HG03831.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 237 | 0.0042 | 1 | c.649 others(4): Show |
p.Arg others(5): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 1/1 | 649/1620 | 649/819 | 217/272 | chrX | TogoVar | ||
CENPVL2_chrX_51676212_51687831 | 51682530 | T | TC | frameshift_variant | HIGH | HG03831.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 237 | 0.0042 | 1 | c.301 others(4): Show |
p.Glu others(5): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 1/1 | 301/1620 | 301/819 | 101/272 | chrX | TogoVar | ||
CENPVL3_chrX_51612020_51623912 | 51618071 | C | CG | frameshift_variant | HIGH | NA19011.hp2 | a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0000 | 1 | 298 | 0.0034 | 1 | c.802 others(4): Show |
p.Arg others(5): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 1/1 | 841/1893 | 802/819 | 268/272 | chrX | TogoVar | ||
CENPVL3_chrX_51612020_51623912 | 51618703 | CT | C | frameshift_variant | HIGH | NA18956.hp2 | a0000 | a0000c0006 | a0000c0006t0009 | a0000c0006t0009g0000 | 1 | 298 | 0.0034 | -1 | c.170 others(4): Show |
p.Lys others(4): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 1/1 | 209/1893 | 170/819 | 57/272 | chrX | TogoVar | ||
CENPV_chr17_16337537_16358469 | 16353140 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG02559.hp2 NA18967.hp1 others(4): Show |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0001a0007c0006t0001 | a0003c0003t0001g0014a0003c0003t0001g0071a0003c0003t0001g0072others(1): Show | 7 | 356 | 0.0197 | 1 | c.296 others(4): Show |
p.Thr others(5): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 329/1132 | 296/819 | 99/272 | chr17 | TogoVar | ||
CEP295_chr11_93656682_93735358 | 93675578 | AAGTAAAA others(15): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0014 | a0014c0044 | a0014c0044t0001 | a0014c0044t0001g0081 | 1 | 354 | 0.0028 | -22 | c.538 others(29): Show |
p.Val others(5): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 6/30 | 657/8014 | 538/7806 | 180/2601 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
CEP295_chr11_93656682_93735358 | 93728681 | G | GGGGGGGG others(37): Show |
frameshift_variant others(1): Show |
HIGH | NA18986.hp2 | a0029 | a0029c0039 | a0029c0039t0001 | a0029c0039t0001g0307 | 1 | 354 | 0.0028 | 44 | c.716 others(53): Show |
p.Glu others(6): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 25/30 | 7282/8014 | 7163/7806 | 2388/2601 | chr11 | TogoVar | ||
CEP89_chr19_32870925_32976958 | 32923512 | G | GGACTCGC others(13): Show |
frameshift_variant | HIGH | NA19058.hp2 | a0010 | a0010c0020 | a0010c0020t0003 | a0010c0020t0003g0122 | 1 | 386 | 0.0026 | 20 | c.117 others(29): Show |
p.Gln others(5): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 12/19 | 1278/5673 | 1194/2352 | 398/783 | chr19 | TogoVar | ||
CER1_chr9_14714724_14727733 | 14720210 | GGAGGAAA others(40): Show |
G | frameshift_variant | HIGH | NA19075.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0027 | 1 | 460 | 0.0022 | -47 | c.637 others(54): Show |
p.Lys others(5): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 2/2 | 744/1231 | 637/804 | 213/267 | chr9 | TogoVar | ||
CETN2_chrX_152821994_152835757 | 152828571 | TC | T | frameshift_variant | HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 | 1 | 321 | 0.0031 | -1 | c.394 others(4): Show |
p.Glu others(5): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 4/5 | 441/1413 | 394/519 | 132/172 | chrX | TogoVar | ||
CETN2_chrX_152821994_152835757 | 152828626 | CA | C | frameshift_variant | HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 | 1 | 321 | 0.0031 | -1 | c.339 others(4): Show |
p.Phe others(5): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 4/5 | 386/1413 | 339/519 | 113/172 | chrX | TogoVar | ||
CETN2_chrX_152821994_152835757 | 152829276 | AC | A | frameshift_variant others(1): Show |
HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 | 1 | 321 | 0.0031 | -1 | c.163 others(4): Show |
p.Val others(4): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 3/5 | 210/1413 | 163/519 | 55/172 | chrX | TogoVar | ||
CFAP157_chr9_127701988_127721002 | 127713110 | A | AC | frameshift_variant | HIGH | HG00735.hp1 HG00741.hp2 HG01978.hp1 others(3): Show |
a0005 | a0005c0008a0005c0012 | a0005c0008t0002a0005c0012t0001 | a0005c0008t0002g0001a0005c0008t0002g0010a0005c0012t0001g0005others(1): Show | 6 | 354 | 0.0170 | 1 | c.139 others(5): Show |
p.Arg others(5): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 8/9 | 1442/3704 | 1398/1563 | 466/520 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CFAP276_chr1_109100951_109117747 | 109108012 | T | TGTGTTGG others(463): Show |
frameshift_variant others(1): Show |
HIGH | HG01934.hp1 HG03098.hp2 NA20752.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0019 | 3 | 404 | 0.0074 | 470 | c.106 others(477): Show |
p.His others(4): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/5 | 174/655 | 106/510 | 36/169 | chr1 | TogoVar |